C5, complement C5, 727

N. diseases: 129; N. variants: 20
Disease: Complement deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group GENOMICS_ENGLAND A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. 25534848 2015
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker group HPO